ClinGen Allele Registry
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Canonical Allele Identifier:
CA913190824
Gene: MT-ATP8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
626321
ClinVar RCV Id:
RCV000768565
dbSNP Id:
rs1569484208
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8420_8421insATA , J01415.2:m.8420_8421insATA
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.55_56insATA
ENSP00000355265.1:p.Leu18_Thr19insAsn
Search 100 bp 5'
Search 100 bp 3'